ClinVar Genomic variation as it relates to human health
GRCh37/hg19 2p24.3-24.2(chr2:12269293-18259781)x3
Germline
Classification
(1)
Pathogenic
no assertion criteria provided
Somatic
No data submitted for somatic clinical impact
Somatic
No data submitted for oncogenicity
Genes
Gene | OMIM | ClinGen Gene Dosage Sensitivity Curation | Variation Viewer | Related variants | ||
---|---|---|---|---|---|---|
HI score | TS score | Within gene | All | |||
MYCN | Sufficient evidence for dosage pathogenicity | No evidence available |
GRCh38 GRCh37 |
159 | 256 | |
GEN1 | Dosage sensitivity unlikely | No evidence available |
GRCh38 GRCh37 |
613 | 641 | |
CYRIA | - | - | - |
GRCh38 GRCh37 |
7 | 33 |
DDX1 | - | - |
GRCh38 GRCh37 |
36 | 72 | |
KCNS3 | - | - |
GRCh38 GRCh37 |
37 | 61 | |
LRATD1 | - | - |
GRCh38 GRCh37 |
13 | 38 | |
MSGN1 | - | - |
GRCh38 GRCh37 |
17 | 41 | |
MYCNOS | - | - |
GRCh38 GRCh37 |
- | 97 | |
NBAS | - | - |
GRCh38 GRCh37 |
2378 | 2459 | |
RAD51AP2 | - | - | - |
GRCh38 GRCh37 |
68 | 102 |
There are 3 more genes affected by this variant. See the full set of genes in Variation Viewer (GRCh37) and ClinGen Dosage Sensitivity Map.
Conditions - Germline
Condition | Classification
(# of submissions) |
Review status | Last evaluated | Variation/condition record |
---|---|---|---|---|
Pathogenic (1) |
|
Jan 26, 2018 | RCV000847286.2 |
Citations for germline classification of this variant
HelpText-mined citations for this variant ...
HelpRecord last updated Dec 11, 2022